Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals
机构：[a]Department of Neurobiology, Beijing Institute of Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing, China老年医学科首都医科大学宣武医院[b]Department of Neurology, Beijing Institute of Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing, China神经内科老年医学科首都医科大学宣武医院[c]Key Laboratory on Neurodegenerative Disease of Ministry of Education and Key Laboratory on Parkinson’s Disease of Beijing, Beijing, China[d]Department of Neurology, The Affiliated Sanming First Hospital of Fujian Medical University, Sanming, Fujian, China[e]Department of Neurology, Xiangya Hospital of Central South University, Changsha, China[f]Department of Neurology, West China Hospital of Sichuang University, Chengdu, China[g]Department of Neurology, Beijing Titan Hospital Affiliated to Capital Medical University, Beijing, China[h]Institute of Neurology, Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China
Clinical profiles of Parkinson's disease (PD) related to LRRK2 (LRRK2-PD), and GBA (GBA-PD) genes have not been reported in Chinese individuals. In this study, we have investigated motor and non-motor aspects in 1638 Chinese PD patients who carried LRRK2 G2385R or R1628P (LRRK2-PD, n = 223), GBA L444P variant (GBA-PD, n = 49), or none of the variants (idiopathic PD [IPD], n = 1366). As a result, age at onset and motor and non-motor features of LRRK2-PD patients were similar to IPD patients except for milder non-motor symptoms. In contrast, GBA-PD patients had a significantly younger age at onset and higher Unified Parkinson's Disease Rating Scale scores than LRRK2-PD and IPD patients. In addition, postural instability and gait disorders, motor complications, cognitive decline, hallucination, sexual dysfunction, and constipation were more frequent in GBA-PD than in LRRK2-PD and IPD patients, and GBA-PD patients had a worse performance for social functioning and role-emotional scores. Our study represents the first large-scale clinical study of LRRK2-PD and GBA-PD in ethnic Chinese individuals. The data suggest that both LRRK2-PD and GBA-PD are similar to IPD, except for an earlier age at onset and relatively more common non-motor symptoms in GBA-PD patients. These findings strengthen our understanding of the clinical heterogeneity of PD, and may have implications for molecular classification of the disease. (C) 2014 Elsevier Inc. All rights reserved.
基金：
the Ministry of Science and Technology of China (2012AA02A514)
the National Basic Research Development Program of China (2011CB504101)
the Beijing High Standard Health Human Resource Cultural Program in Health System (2009e1e12)
National Natural Science Foundation of China (no.81271249)
第一作者机构：[a]Department of Neurobiology, Beijing Institute of Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing, China[b]Department of Neurology, Beijing Institute of Geriatrics, Xuanwu Hospital of Capital Medical University, Beijing, China[c]Key Laboratory on Neurodegenerative Disease of Ministry of Education and Key Laboratory on Parkinson’s Disease of Beijing, Beijing, China[d]Department of Neurology, The Affiliated Sanming First Hospital of Fujian Medical University, Sanming, Fujian, China
通讯作者：
通讯机构：[*1]Xuanwu Hospital of Capital Medical University, #45 Changchun Street, 100053 Beijing, China.
推荐引用方式(GB/T 7714)：
Chaodong Wang,Yanning Cai,Zhuqin Gu,et al.Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals[J].NEUROBIOLOGY OF AGING.2014,35(3):725.e1-6.doi:10.1016/j.neurobiolaging.2013.08.012.
APA：
Chaodong Wang,Yanning Cai,Zhuqin Gu,Jinghong Ma,Zheng Zheng...&Piu Chan.(2014).Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals.NEUROBIOLOGY OF AGING,35,(3)
MLA：
Chaodong Wang,et al."Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals".NEUROBIOLOGY OF AGING 35..3(2014):725.e1-6
